methylmalonic acid has been researched along with Genetic Predisposition in 8 studies
Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Cobalamin J disease (CblJ) is an ultra-rare autosomal recessive disorder of intracellular cobalamin metabolism associated with combined methylmalonic acidemia and homocystinuria." | 4.02 | Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course. ( Aggarwal, A; Berry, SA; Miller, D; Pierpont, EI; Pillai, NR, 2021) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (25.00) | 29.6817 |
| 2010's | 4 (50.00) | 24.3611 |
| 2020's | 2 (25.00) | 2.80 |
| Authors | Studies |
|---|---|
| Kang, L | 1 |
| Liu, Y | 2 |
| Shen, M | 1 |
| He, R | 1 |
| Song, J | 1 |
| Jin, Y | 1 |
| Li, M | 1 |
| Zhang, Y | 2 |
| Dong, H | 1 |
| Liu, X | 1 |
| Yan, H | 1 |
| Qin, J | 1 |
| Zheng, H | 1 |
| Chen, Y | 1 |
| Li, D | 1 |
| Wei, H | 1 |
| Zhang, H | 2 |
| Sun, L | 1 |
| Zhu, Z | 1 |
| Liang, D | 1 |
| Yang, Y | 2 |
| Pillai, NR | 1 |
| Miller, D | 1 |
| Pierpont, EI | 1 |
| Berry, SA | 1 |
| Aggarwal, A | 1 |
| Grützner, N | 1 |
| Heilmann, RM | 1 |
| Stupka, KC | 1 |
| Rangachari, VR | 1 |
| Weber, K | 1 |
| Holzenburg, A | 1 |
| Suchodolski, JS | 1 |
| Steiner, JM | 1 |
| Footitt, EJ | 1 |
| Stafford, J | 1 |
| Dixon, M | 1 |
| Burch, M | 1 |
| Jakobs, C | 1 |
| Salomons, GS | 1 |
| Cleary, MA | 1 |
| Wang, F | 1 |
| Han, L | 1 |
| Gu, X | 1 |
| Ye, J | 1 |
| Qiu, W | 1 |
| Gao, X | 1 |
| Wang, Y | 1 |
| Marucci, GH | 1 |
| Zampieri, BL | 1 |
| Biselli, JM | 1 |
| Valentin, S | 1 |
| Bertollo, EM | 1 |
| Eberlin, MN | 1 |
| Haddad, R | 1 |
| Riccio, MF | 1 |
| Vannucchi, H | 1 |
| Carvalho, VM | 1 |
| Pavarino, EC | 1 |
| Hörster, F | 1 |
| Baumgartner, MR | 1 |
| Viardot, C | 1 |
| Suormala, T | 1 |
| Burgard, P | 1 |
| Fowler, B | 1 |
| Hoffmann, GF | 1 |
| Garbade, SF | 1 |
| Kölker, S | 1 |
| Baumgartner, ER | 1 |
| Sharma, AP | 1 |
| Greenberg, CR | 1 |
| Prasad, AN | 1 |
| Prasad, C | 1 |
8 other studies available for methylmalonic acid and Genetic Predisposition
| Article | Year |
|---|---|
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Topics: Adolescent; Age of Onset; Amino Acid Metabolism, Inborn Errors; Asian People; Child; Child, Preschoo | 2020 |
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Topics: Amino Acid Metabolism, Inborn Errors; ATP-Binding Cassette Transporters; Female; Genetic Predisposit | 2021 |
Serum homocysteine and methylmalonic acid concentrations in Chinese Shar-Pei dogs with cobalamin deficiency.
Topics: Animals; Dog Diseases; Dogs; Genetic Predisposition to Disease; Homocysteine; Methylmalonic Acid; Re | 2013 |
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Topics: Angiotensin-Converting Enzyme Inhibitors; Captopril; Carboxy-Lyases; Cardiomyopathies; Carnitine; Ch | 2010 |
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Carrier Proteins; Child, Preschool; Chi | 2010 |
Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome.
Topics: DNA Primers; Down Syndrome; Female; Folic Acid; Gene Frequency; Genetic Association Studies; Genetic | 2012 |
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).
Topics: Adolescent; Adult; Age of Onset; Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; | 2007 |
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
Topics: Acute Kidney Injury; Betaine; Brain Diseases, Metabolic, Inborn; Carnitine; Carrier Proteins; Combin | 2007 |